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PubMed1999

Whole blood manganese levels in pregnancy and the neonate.

A finding of hypermanganesemia was reported in a pregnant female who received total parenteral nutrition (TPN) for a total of 27 wk as a result of intractable Hyperemesis gravidarum. It was assumed this was the result of the TPN therapy which included manganese (Mn) supplementation. However, the Mn levels continued to rise despite ceasing supplemental Mn, and no evidence of hepatic cholestasis. These high levels were also observed in the 10-d-old neonate, despite a fall in the mother's levels at parturition. A cross sectional study of 19 females at 34 wk pregnancy showed six (31.5%) were outside the quoted reference range for Mn levels. This study was undertaken to monitor Mn levels throughout the pregnancy period and in the neonate in the initial post partum period. Thirty-four pregnant females were randomly recruited from the Gold Coast Hospital antenatal clinic. Whole blood Mn levels were determined for each female on three separate occasions during the trial, at the first visit to the clinic (10-20 wk) and at 25 wk and 34 wk gestation. Mn levels were also determined from blood taken from the baby at neonatal screening (3-4 d old) by heel prick. There was a significant increase in the mean whole blood Mn levels throughout the pregnancy (P<0.0025 and P<0.0005, respectively) and an average three-fold increase in this level in the neonate (P<0.0005). The data confirms a concentrating effect of Mn, as measured by whole blood levels, throughout pregnancy and more dramatically so in the neonate which may indicate a vital role in fetal development.

Australia↗
PubMed1983

Diagnostic and therapeutic aspects of dihydrobiopterin deficiency.

The first Scandinavian hyperphenylalaninaemic patient with a cofactor deficiency is described. By neonatal screening the Guthrie test showed a serum phenylalanine of 302 mumol/1 (5 mg/dl), which at age 6 weeks had fallen to high normal values. At age 5 1/2 months the serum phenylalanine was around 2000 mumol/1 and the child presented with severe neurological symptoms. The diagnosis of defect dihydrobiopterin biosynthesis was made by high performance liquid chromatography of the urine. Loading tests followed by daily treatment of the missing cofactor was able to keep the serum phenylalanine in the normal level. Because of persisting, yet diminishing neurological symptoms neurotransmitter treatment was started. Breast feeding as the cause of the low neonatal levels of serum phenylalanine and the late start of clinical symptoms is proposed and the importance of screening all hyperphenylalaninaemic newborns for defect biopterin metabolism is stressed.

5-Hydroxytryptophan↗
PubMed2000

Prevention of perinatal group B streptococcal infection: current controversies.

Group B streptococcus (GBS) is the most frequent cause of neonatal sepsis in the United States. The Centers for Disease Control and Prevention (CDC) issued guidelines for its prevention in 1996. This article details areas of controversy with those guidelines and offers recommendations for resolution. We recommend that a prevention policy be adopted by all hospitals. If a screening-based policy is chosen, compliance is essential. Penicillin is the antibiotic of choice for GBS prevention. Increasing resistance to clindamycin and erythromycin might eliminate them as alternative choices in patients allergic to penicillin. Group B streptococcal prophylaxis might not be necessary in women who have repeat elective cesarean delivery. In asymptomatic women, a positive urine culture for GBS should be considered clinically equivalent to a positive vaginal or rectal sample for screening. Neonatal sepsis caused by organisms other than GBS must be monitored carefully by all hospitals providing obstetrics services.

Antibiotic Prophylaxis↗
PubMed2004

Modification of CMV DNA detection from dried blood spots for diagnosing congenital CMV infection.

BACKGROUND: Detection of viral DNA in dried blood spots using the Guthrie card (DBS test) is a reliable and practical method of diagnosing congenital cytomegalovirus (CMV) infection. The test lends itself to epidemiological studies to establish the prevalence of the infection, but also to neonatal screening for secondary prevention of sequelae. These applications would be facilitated if it were possible to use smaller samples and do the test on pools of individual cases. OBJECTIVE: To ascertain whether doing the test on smaller, pooled samples still accurately identifies neonates with congenital CMV infection. STUDY DESIGN: We tested DBS from: (A) 39 laboratory reference cases; (B) 156 neonates suspected of having congenital CMV infection; (C) 119 children examined for the retrospective diagnosis of congenital CMV; (D) mock specimens prepared with known amounts of viral DNA. RESULTS: The test using only one third of the usual amount of dried blood was 100% sensitive and specific compared to the standard DBS test (A) and to viral isolation (A and B). Pools of three single cases gave the same results as viral isolation (B) and the small-sample test (B and C). All the versions of the test gave a detection limit of 400 copies/ml. CONCLUSIONS: The modified procedure can accurately diagnose congenital CMV infection. It achieves savings in both the patient material and the costs of testing.

Blood Specimen Collection↗
PubMed1984

Detecting hearing-impairment in neonates--the statistical decision criterion for the Auditory Response Cradle.

The Auditory Response Cradle (ARC) has great potential for detecting severe hearing impairments in neonates. This article reviews the ARC's statistical decision algorithm and presents data that show its present efficiency is below the proposed criterion (Bennett and Wade, 1980) in a high proportion of cases. Two alternative decision rules are proposed for use in screening neonates with the ARC. The first uses a test of fixed length and the second uses a statistically more controlled method based on the sequential probability ratio test of Wald.

Audiometry↗
PubMed1978

[Screening for aminoacidopathies in newborns by means of an aminoacid analyzer. Reference values and statistical determinations (author's transl)].

Plasmatic concentrations of amino acids valine, methionine, isoleucine, leucine, tyrosine and phenylalanine, in 4100 newborns of age varying between 1 and 18 days have been analyzed. The samples were randomly taken among the newborns of Lazio, Abruzzi and Molise subjected to neonatal screening for aminoacidopathies at the Centro delle Oligofrenie Dismetaboliche, Istituto di Neuropsichiatria Infantile. Average concentrations in mumoles/100 ml of the aminoacids and their correlations with weight and age have been studied. A comparison of the results of this research with the already published data is made, and the cut off points in mass screening for aminoacidopathies are calculated.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Neonatal polycythemia: I. Criteria for diagnosis and treatment.

In order to better define criteria for diagnosis and treatment of neonatal polycythemia, 74 neonates with peripheral venous hematocrit levels greater than or equal to 65% were studied. The hematocrit levels of capillary (Cap Hct), peripheral venous (PV Hct), and umbilical venous (UV Hct) blood was measured. Viscosity of umbilical venous blood (UV eta) was determined. Mean +/- SE Cap Hct (75 +/- 0.5%) was significantly higher than PV Hct (71 +/- 1.0%, P less than .001) and PV Hct was higher than mean UV Hct (63 +/- 0.6%, P less than .001). Cap Hct correlated with neither PV Hct nor UV Hct, but PV Hct and UV Hct correlated moderately (r = .54, P less than .001). Of the neonates with UV Hct greater than or equal to 63%, 80% and UV eta in excess of 3 SD above the normal mean (in excess of 14.6 cps at shear rate 11.5 sec(-1)), whereas 94% of the neonates with UV Hct less than 63% had UV eta within normal range. Neonates with hyperviscosity were seen with two or more clinical symptoms more often than their peers with normal viscosity (P less than .04). Partial exchange transfusion in 21 neonates reduced mean UV Hct from 61 +/- 1.1% to 50 +/- 1.0% (P less than .001) and mean UV eta from 13.0 +/- 0.64 cps to 8.6 +/- 0.54 cps (P less than .001). These data suggest that Cap Hct and PV Hct may be used to screen neonates for polycythemia, but that the final diagnosis and therapeutic decisions should be based on UV Hct or even preferably on UV eta. They further suggest that UV Hct greater than or equal to 63% is strongly indicative of hyperviscosity and should be treated by partial exchange transfusion.

Exchange Transfusion, Whole Blood↗
PubMed1998

[Early detection of profound hearing loss in children. Results of screening students in Rhine schools for the deaf and hearing impaired in Cologne].

OBJECTIVE: Early detection and adequate and timely rehabilitation of profound deafness in children is accepted as an important aim of preventive child health care. Ideally, rehabilitation of congenital deafness should not be delayed beyond the age of six months. The present study seeks to determine whether this goal has been achieved in Germany in the 1990s. PATIENTS AND METHODS: The medical charts of 314 profoundly hearing impaired pupils at the schools for the hearing impaired in Cologne, Germany, were reviewed. All available data on the time of first suspicion and the final diagnosis were collected. In addition, the families of these children were interviewed using a standardized questionnaire. RESULTS: The mean age at first suspicion was 2.1 years, the mean age at the time of final diagnosis was 2.6 years (median: 2.0 years). Breaking down the whole cohort into three subgroups according to the year of birth revealed obvious differences between these subgroups. The final diagnosis for those born from 1974 to 1979 (n = 70) was confirmed in 48.6% at the age of two years, in 46.3% for those born from 1980 to 1985 (n = 121), and in 65.8% for those born from 1986 to 1991 (n = 114) at the age of two. The diagnosis was significantly delayed for children of immigrants (n = 96), where the mean age at diagnosis was 3.7 years as opposed to 2.0 years for the native German population. Of the 314 children, 304 where supplied with hearing aids and five with cochlear implants. Once the audiological diagnosis had been established, no further delay in rehabilitation was noticed. CONCLUSION: Although highly sensitive, cost effective, and non-invasive screening methods (transient evoked otoacoustic emissions and auditory brainstem response audiometry) for the early detection of profound inborn hearing impairment are now available, the current state of early identification of these disorders is inadequate. The reason for this is the lack of a universal and nationwide neonatal screening program. The results of this study indicate that the pure availability of sophisticated screening methods is insufficient if they are not included in a universal screening program.

Child↗
PubMed1975

Comparison of an amino acid mixture and protein hydrolysates in treatment of infants with phenylketonuria.

This study compares three feeding regimens for infants with phenylketonuria diagnosed by neonatal screening. Group 1 (five children) received Minafen (Cow & Gate) until they weighed twice their birthweights; Aminogran (Allen & Hanbury) was then added to the feeds in increasing amounts and replaced Minafen at between 8 and 10 months of age. Group 2 (five children) received Aminogran from the neonatal period. Group 3 (five children) received Minafen until they weighed twice their birthweights; Cymogran (Allen & Hanbury) was then added in increasing amounts and replaced Minafen at between 8 and 10 months of age. In all three groups growth was normal and control of phenylalanine levels satisfactory. During the first few months of life the Aminogran regimen proved more complicated and caused more practical difficulties than the regimens starting with Minafen. Later in the first year, when mixed feeding was introduced, and particularly when the bottle was exchanged for the cup, Aminogran had advantages over Cymogran because of its low calorie content, small bulk, and less unpleasant taste. At this age feeding problems were fewer and easier to manage with Aminogran than with Cymogran. A method of using Aminogran in the management of such problems is described. For these reasons, the regimen fed group 1, in which Minafen is used initially and then replaced by Aminogran, is preferred to the other two.

Alkaline Phosphatase↗
PubMed2003

Evidence for surviving outer hair cell function in congenitally deaf ears.

OBJECTIVES/HYPOTHESIS: The hypotheses of the study were that congenital hearing impairment in infants can result from the isolated loss of inner hair cells of the cochlea and that this is shown by the presence of abnormal positive summating potentials on round window electrocochleography. The objectives were to establish the proportion of infants with hearing loss affected, the nature of the cochlear lesion, and its etiology. And to highlight the important implications for otoacoustic emissions testing and universal neonatal screening. STUDY DESIGN: A prospectively conducted consecutive cohort study with supplemental review of notes was performed. METHODS: Four hundred sixty-four children underwent round window electrocochleography and auditory brainstem response testing under general anesthesia to assess suspected hearing loss. The presence of abnormal positive potentials was recorded. Otoacoustic emissions data were collected separately and retrospectively. RESULTS: Three hundred forty-two children had significant bilateral congenital hearing loss. All results were from hearing-impaired children. Abnormal positive potentials were recorded in 73 of 342 children (21%). Eighty-three percent of children with otoacoustic emissions also had abnormal positive potentials, but only 14% of children without otoacoustic emissions had abnormal positive potentials (P <.001). In the neonatal intensive care unit setting, 43% of infants were found to have abnormal positive potentials, whereas only 10% had abnormal positive potentials if not in the neonatal intensive care unit setting (P <.001). Abnormal positive potentials were present in 63% of infants born before 30 weeks gestation and in 14% of infants born at term (P <.001). Abnormal positive potentials were identified in 57% of infants with documented hypoxia and 11% of children with no episodes (P <.001). Otoacoustic emissions were present in 48% of infants from the neonatal intensive care unit, despite their hearing loss. CONCLUSION: Both otoacoustic emissions and abnormal positive potentials may originate from outer hair cell activity following inner hair cell loss. This may occur in more than 40% of hearing-impaired children in the neonatal intensive care unit setting. Chronic hypoxia is the most likely cause. Otoacoustic emissions testing may not be a suitable screening tool for such infants.

Audiometry, Evoked Response↗
PubMed2007

Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' data.

BACKGROUND: Despite three decades of prenatal screening for congenital toxoplasmosis in some European countries, uncertainty remains about the effectiveness of prenatal treatment. METHODS: We did a systematic review of cohort studies based on universal screening for congenital toxoplasmosis. We did a meta-analysis using individual patients' data to assess the effect of timing and type of prenatal treatment on mother-to-child transmission of infection and clinical manifestations before age 1 year. Analyses were adjusted for gestational age at maternal seroconversion and other covariates. FINDINGS: We included 26 cohorts in the review. In 1438 treated mothers identified by prenatal screening, we found weak evidence that treatment started within 3 weeks of seroconversion reduced mother-to-child transmission compared with treatment started after 8 or more weeks (adjusted odds ratio [OR] 0.48, 95% CI 0.28-0.80; p=0.05). In 550 infected liveborn infants identified by prenatal or neonatal screening, we found no evidence that prenatal treatment significantly reduced the risk of clinical manifestations (adjusted OR for treated vs not treated 1.11, 95% CI 0.61-2.02). Increasing gestational age at seroconversion was strongly associated with increased risk of mother-to-child transmission (OR 1.15, 95% CI 1.12-1.17) and decreased risk of intracranial lesions (0.91, 0.87-0.95), but not with eye lesions (0.97, 0.93-1.00). INTERPRETATION: We found weak evidence for an association between early treatment and reduced risk of congenital toxoplasmosis. Further evidence from observational studies is unlikely to change these results and would not distinguish whether the association is due to treatment or to biases caused by confounding. Only a large randomised controlled clinical trial would provide clinicians and patients with valid evidence of the potential benefit of prenatal treatment.

Coccidiostats↗
PubMed1999

Provision of HPA-1a (PlA1)-negative platelets for neonatal alloimmune thrombocytopenia: screening, testing, and transfusion protocol.

HPA-1a-negative platelet products are not routinely available for newborns with alloimmune thrombocytopenia. In this article we describe a program established to identify normal pheresis donors who are HPA-1a-negative and to organize their future donations so that our regional blood center would always have an HPA-1a-negative platelet product available. The solid phase red cell adherence assay was used for initial screening of platelet pheresis products. HPA-1a-negative donors were confirmed with the platelet suspension immunofluorescence test using three anti-HPA-1a sera. Screening of 2600 plateletpheresis donor samples identified 40 HPA-1a-negative donors. Of these, 36 are active and are coded for recognition on the daily pheresis inventory sheet. Theoretically, assuming four donations per year and donors' cooperation with scheduling, these 36 donors would enable us to have at least one HPA-1a-negative product available every day. In addition, a decision tree for patient management using platelet serology and availability of HPA-1a-negative products was developed. The GTI-PAK trade mark 12 is the major technique used for serologic screening of mothers of patients thought to have neonatal alloimmune thrombocytopenia. By screening pheresis donors and developing a clinical decision tree, HPA-1a-negative products, a rare resource, can be fully utilized.

Journal Article↗
PubMed1980

[Congenital hypothyroidism: results of screening 30 000 neonates in lower saxony (author's transl)].

While screening 30 000 children for congenital hypothyroidism by radioimmunological determination of thyroid stimulating hormone (TSH) in blood spotted on filter paper on the 5th day of life, 12 neonates were found with this condition. In addition 99 infants were found who showed temporarily elevated TSH levels (20-80 microU/ml). Seven of the transitory cases could be traced to a vaginal application of povidone-iodine in the mother. Alimentary iodine deficiency, which is known to exist in parts of Lower Saxony, may be another explanation for some of the others.

Congenital Hypothyroidism↗
PubMed1986

Pediatric neurosonography.

Neurosonography is an excellent modality for imaging a wide array of intracranial pathology in the infant and newborn. Neurosonography is also finding increasing use in other accessible regions of the central nervous system, including the adult brain during craniotomy and the spine during laminectomy. Sonography represents the primary modality for the evaluation of the preterm brain. Because of the high incidence of pathology in gestationally immature neonates, screening sonography is required in every infant. The sonographic features of intracranial hemorrhage include areas of increased echogenicity in the region of the germinal matrix, within the ventricles, or in the surrounding cerebral parenchyma. Careful follow-up of these children for sometimes severe posthemorrhagic hydrocephalus is essential. Premature neonates are also at risk for ischemic disease, particularly periventricular leukomalacia, which is accurately diagnosed sonographically and implies a poor prognosis in almost every infant so affected. Cranial sonography is also an excellent method to evaluate abnormalities that are not associated with gestational immaturity. Cranial sonography offers excellent anatomic imaging of the brain when evaluating for congenital anomalies; because sections may be obtained in a multitude of orientations, sonography is actually more versatile than computed tomographic (CT) scans. Cranial sonography is also of use when evaluating children with inflammatory processes such as ventriculitis; sonography is superior to CT scans in identifying intraventricular septae typical of the process. Intrauterine inflammatory processes, however, are frequently associated with intracranial calcifications, CT scans may be more accurate in these cases. CT scans may also be more efficacious in the diagnosis of subdural, epidural, and subarachnoid hemorrhage. Intracranial neoplasms are rare in the younger population and although they are visible with ultrasound, CT scans with contrast are essential in an effort to obtain added information and because of a greater experience using CT scans. Sonography represents an excellent modality with which to evaluate the infant and neonatal brain. In a number of diseases it may be diagnostic alone. The informed clinician, however, should keep in mind those instances where a complimentary modality such as CT scanning can add additional or even essential information.

Brain↗
PubMed1996

Temporal and geographical trends of anti-HIV-1 antibodies screening among newborns in Italy, 1990-1993. Italian Collaborative Study Group for HIV Prevalence in Newborns.

To describe the dynamic of HIV-1 prevalence in Italian childbearing women and to estimate the future incidence of pediatric AIDS due to vertical transmission, dried-blood specimens collected from a consecutive sample of newborns in all Italian regions were examined for the presence of anti-HIV-1 antibodies (HIV-Ab) after the routine neonatal screening program was completed. Of 555,722 blood samples collected and examined for HIV-Ab between 1990 and 1993, 550 (0.099%) were positive. Nationwide, the HIV seroprevalence decreased between 1990 and 1992 (0.124% in 1990, 0.100% in 1991, 0.085% in 1992), and increased, as compared with that in the previous year, in 1993 (0.096%). In an univariate analysis, HIV seroprevalence was positively was positively associated with being born in regions having higher AIDS cumulative incidence and in metropolitan areas, but negatively associated with year of delivery. In a multiple logistic regression analysis, only the AIDS cumulative incidence level of the delivery area and being born in a metropolitan area remained independently associated with HIV seroprevalence. Our results show significant geographical variation in the spread of HIV infection among childbearing women in Italy and provide useful indications to target prevention and care strategies for HIV-infected women and their children and to estimate the potential impact of implementing programs aimed at preventing vertical transmission of HIV infection.

Adult↗
PubMed2005

[Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].

Phenylketonuria (PKU) is an inherited metabolic disease affecting about one birth out of 15 000. From 1978, a national systematic neonatal screening was set up in France with a regional organisation. French rational and guidelines have been established by the national PKU group with the collaboration of all the physicians responsible for the regional centres. These guidelines specify the minimal diagnosis procedures leading to an optimal treatment of all patients. A low-phenylalanine diet must be started as soon as possible in the neonatal period for all newborns whose phenylalanine levels are above 10 mg/dl. The dietary control must keep the phenylalanine plasma levels between 2 and 5 mg/dl until 10 years of age. After this age, several data argue for a progressive and controlled relaxation of the diet, keeping the phenylalanine level below 15 mg/dl until the end of the adolescence and below 20 to 25 mg/dl in adulthood. All PKU patients must be followed up for life, in order to screen those who may not bear the diet relaxation and in order to strictly prevent maternal PKU deleterious consequences.

Child↗
PubMed2005

The effect of thyroxine treatment started in the neonatal period on development and growth of two-year-old Down syndrome children: a randomized clinical trial.

CONTEXT: Young Down syndrome children appear to have a mild form of congenital hypothyroidism that is rarely detected by neonatal screening and usually left untreated. OBJECTIVE: To investigate the effects of thyroxine treatment on development and growth of young Down syndrome children. DESIGN, SETTING, AND PARTICIPANTS: Single-center, randomized, double-blind, 24-month trial (enrollment June 1999 to August 2001) with nationwide recruitment, comparing thyroxine administration with placebo in 196 Down syndrome neonates. INTERVENTION: Neonates were randomly assigned to treatment for 2 yr with either thyroxine (n = 99; initial dose 8 microg/kg) or placebo (n = 97). Daily thyroxine doses were adjusted at regular intervals to maintain plasma TSH in its normal and free T(4) concentrations in its high-normal range. Placebo dose adjustments mirrored those of thyroxine. MAIN OUTCOME MEASURES: The primary outcome was mental and motor development at age 24 months, assessed with the Bayley Scales of Infant Development II. RESULTS: At age 24 months, the developmental testing results of 90 thyroxine-, and 91 placebo-treated children were available for analysis. The thyroxine-treated children had a 0.7-month smaller delay in motor developmental age (95% confidence interval, -1.4 to 0), corresponding to a difference of seven motor developmental index points. The mental developmental age delay was also 0.7 month smaller in the thyroxine group (95% confidence interval, -1.5 to 0.2), but lacked statistical significance. Thyroxine-treated children had greater gains in length (1.1 cm; 95% confidence interval, 0.2 to 2.0) and weight (378 g; 95% confidence interval 55 to 701). CONCLUSIONS: The data of our study provide evidence to support the hypothesis that thyroxine treatment may improve development and growth of young Down syndrome children. Thyroxine treatment should be considered in Down syndrome neonates to maximize their early development and growth.

Apgar Score↗
PubMed1986

Congenital dislocation of hip in the newborn: a postnatal survey.

The results of a postnatal survey carried out for congenital dislocation of hip in children born at the Wellington Hospital maternity unit over a ten year period is presented. Of the 15,000 neonates born during this period, 91% underwent hip examinations. Abnormality was recorded 1.8% (n = 247) 78% (n = 192) of whom had clinically stable hips when re-checked seven to ten days later. In all, 60 children had unstable hips requiring definitive treatment, five of whom missed the neonatal screening and presented late. In this latter group, 77% (n = 46) had normal hips by six months of age following conventional splintage. Eight point two percent (n = 5) were unstable after six months of splintage, 5% (n = 3) were lost to follow-up, 1.6% (n = 1) presented late and in 8.2% (n = 5) the hip examination was either not done or instability not detected. We conclude that, in spite of the great awareness and known long term benefits of early neonatal hip examinations, late presentations because of missed examinations continue to be significant.

Female↗